ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.158C>T (p.Ala53Val) (rs1879761)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041465 SCV000065160 benign not specified 2010-04-23 criteria provided, single submitter clinical testing Ala53Val in exon 3 of OTOF: This variant is not expected to have clinical signif icance because it was detected in normal hearing controls and it involves a chan ge at a position that is not conserved (Jiminez 2007, Varga 2006). In addition, it has been seen in an unpublished study with a minor allele frequency of 3% and has been identified in 10/122 (8%) of individuals tested by our laboratory. Thi s variant is also listed in dbSNP (rs1879761 - no frequency data available).
PreventionGenetics,PreventionGenetics RCV000041465 SCV000316845 benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000041465 SCV000340864 benign not specified 2016-04-29 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000021036 SCV000429658 benign Deafness, autosomal recessive 9 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV000041465 SCV000730601 benign not specified 2017-09-07 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001282184 SCV001156864 benign none provided 2020-07-09 criteria provided, single submitter clinical testing
GeneReviews RCV000021036 SCV000041690 benign Deafness, autosomal recessive 9 2011-04-26 no assertion criteria provided curation Converted during submission to Benign.

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